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Literature citations Results

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Jurkiewicz D., Popowska E., Glaeser C., Hansmann I., Krajewska-Walasek M.

Hum. Mutat. 25:321-321(2005) · UniProtKB (1) · Mapped (6)

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.

Harendza S., Hubner C.A., Glaser C., Burdelski M., Thaiss F., Hansmann I., Gal A., Stahl R.A.

J. Nephrol. 18:312-317(2005) · Mapped (7)

Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome.

Fischer A., Klamt B., Schumacher N., Glaeser C., Hansmann I., Fenge H., Gessler M.

Mamm. Genome 15:711-716(2004) · Mapped (6)

Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH).

Schnittger S., Rao V.V., Deutsch U., Gruss P., Balling R., Hansmann I.

Genomics 14:740-744(1992)

Paramutation-like effects at the mouse scapinin (Phactr3) locus.

Worch S., Hansmann I., Schlote D.

J. Mol. Biol. 377:605-608(2008) · Mapped (4)

Molecular structure and chromosomal mapping of the human homolog of the agouti gene.

Kwon H.-Y., Bultman S.J., Loeffler C., Chen W.-J., Furdon P.J., Powell J.G., Usala A.-L., Wilkison W., Hansmann I., Woychik R.P.

Proc. Natl. Acad. Sci. U.S.A. 91:9760-9764(1994) · UniProtKB (1) · Mapped (1)

Mapping of the ribophorin II (RPN II) gene to human chromosome 20q12-q13.1 by in-situ hybridization.

Loffler C., Rao V.V., Hansmann I.

Hum. Genet. 87:221-222(1991) · Mapped (4)

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

Roepke A., Kujat A., Graeber M., Giannakudis J., Hansmann I.

Hum. Mutat. 21:100-100(2003) · UniProtKB (1) · Mapped (6)

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H., Kluwe L., Sandig C., Kohn M., Wimmer K., Krammer U., Peyrl A., Jenne D.E., Hansmann I., Mautner V.F.

Am. J. Hum. Genet. 75:410-423(2004) · Mapped (3)

Genomic structure of karyopherin alpha2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.

Doerr S., Schlicker M., Hansmann I.

Hum. Genet. 109:479-486(2001) · UniProtKB (1)

Genomic organization and expression pattern of scapinin (PHACTR3) in mouse and human.

Worch S., Fiedler E., Hansmann I., Schlote D.

Cytogenet. Genome Res. 115:23-29(2006) · Mapped (7)

Gene structure of semenogelin I and II. The predominant proteins in human semen are encoded by two homologous genes on chromosome 20.

Ulvsbaeck M., Lazure C., Lilja H., Spurr N.K., Rao V.V., Loeffler C., Hansmann I., Lundwall A.

J. Biol. Chem. 267:18080-18084(1992) · UniProtKB (2) · Mapped (1)

Early steps in autophagy depend on direct phosphorylation of Atg9 by the Atg1 kinase.

Papinski D., Schuschnig M., Reiter W., Wilhelm L., Barnes C.A., Maiolica A., Hansmann I., Pfaffenwimmer T., Kijanska M., Stoffel I. et al.

Mol. Cell 53:471-483(2014) · Mapped (4)

Chromosome segregation at meiosis I in female T(2;4)1Go/+ mice: no evidence for a decreased crossover frequency with maternal age.

Beermann F., Bartels I., Franke U., Hansmann I.

Chromosoma 95:1-7(1987) · Mapped (2)

Binding of the Atg1/ULK1 kinase to the ubiquitin-like protein Atg8 regulates autophagy.

Kraft C., Kijanska M., Kalie E., Siergiejuk E., Lee S.S., Semplicio G., Stoffel I., Brezovich A., Verma M., Hansmann I. et al.

EMBO J. 31:3691-3703(2012) · UniProtKB (4) · Mapped (6)

Association of a specific haplotype across the genes MMP1 and MMP3 with radiographic joint destruction in rheumatoid arthritis.

Dorr S., Lechtenbohmer N., Rau R., Herborn G., Wagner U., Muller-Myhsok B., Hansmann I., Keyszer G.

Arthritis Res. Ther. 6:R199-207(2004) · Mapped (1,753)

Assignment1 of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization.

Dmochowska A., Stankiewicz P., Golik P., Stepien P.P., Bocian E., Hansmann I., Bartnik E.

Cytogenet. Cell Genet. 83:84-85(1998)

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